Charlottesville, VA – March 8, 2018 – HemoShear Therapeutics will unveil the first human tissue-based model of Maple Syrup Urine Disease (MSUD) at the Society for Inherited Metabolic Disorders (SIMD) Annual Meeting, being held in San Diego, CA, on March 11 - 14. The company has recreated the human pathophysiology of MSUD in the laboratory to enable scientists to understand the complex disease process, identify and validate promising treatment approaches, and study the effects of drug candidates. HemoShear’s transformational disease models are accelerating the discovery of new treatments for three rare inborn errors of metabolism -- propionic acidemia, methylmalonic acidemia and MSUD. In collaboration with the Children’s National Rare Disease Institute (CN-RDI), four research programs featuring the company’s work in these diseases, including computational rare disease modeling, will be presented to leading clinicians and scientists attending the meeting.

“HemoShear has significantly advanced our understanding and treatment of certain rare inborn errors of metabolism,” said Dr. Marshall Summar, director of the CN-RDI. “These diseases strike right at basic human metabolic function, leading to a cascade of complications from birth through the entire lifespan. If HemoShear can uncover the fundamental functioning of metabolism, not only will we be revising medical textbooks, but we will be far down the path toward developing targeted treatments.”

MSUD is a rare genetic disorder caused by the deficiency of certain enzymes required to metabolize proteins, leading to the rapid buildup of life-threatening toxins in the body. This debilitating disease causes lethargy, irritability and poor feeding, and results in developmental delays and brain damage. The condition, which strikes 1 in 180,000 newborns in the United States, is associated with a maple syrup odor in urine, sweat and earwax. While some symptoms can be controlled by dietary restrictions, there are currently no effective treatments for MSUD.

HemoShear recreated MSUD in the laboratory using its REVEAL-TxTM platform, which applies principles of physiological blood flow to tissue from the livers of patients who had their diseased organ replaced through transplantation. REVEAL-TxTM restored the in vivo MSUD disease state to enable unprecedented insight into complex pathophysiological pathways. In combination with advanced computational tools, the platform accelerates the testing of treatment hypotheses and reduces risk of failure by identifying meaningful drug targets that can be assessed under physiological disease conditions.

“To successfully meet the challenge of developing treatments for rare childhood diseases like MSUD, we need to advance beyond animal models and static cells in a petri dish,” said Brian Wamhoff, PhD, Head of Innovation at HemoShear. “Our innovative REVEAL-TxTM platform combines the power of dynamic human biology and computational science to generate deep understanding of complex diseases. We believe insights generated through our platform will help lead to new therapies that will transform the lives of these children.”

HemoShear has utilized REVEAL-TxTM to recreate nearly 20 human disease states related to liver, vascular and tumor biology. The company is in the preclinical stages of developing therapies for propionic acidemia and methylmalonic acidemia using this platform.

Children’s National Rare Disease Institute (CN-RDI) is a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases. Designated by the National Organization for Rare Disorders (NORD) as its first Center of Excellence for Clinical Care for Rare Diseases, the CN-RDI aims to provide a medical home for patients and families seeking the most advanced care and expertise for rare genetic conditions that remain largely unknown to the general medical community. For more information visit https://childrensnational.org/departments/rare-disease-institute.